C35F (p.Cys35Phe) variant of ORC1 (Q13415)
C35F (p.Cys35Phe) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
C35F (p.Cys35Phe) variant details
- p.Cys35Phe
- rs894548961
- ClinGen CA22527114
- ClinVar RCV002906342
- TOPMed rs894548961
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 1.00
- EVE 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)